Results 41 to 50 of about 49,281 (297)

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

A Cross-sectional Study on Molecular Cartography: The Mapping of Down Syndrome with Cytogenetic Tools [PDF]

National Journal of Laboratory Medicine
Introduction: Down Syndrome (DS), or trisomy 21, is the most common genetic cause of intellectual disability among children, with an incidence of 1 in 700 births.
A Deepa, K Chandramouleeswari, M Dougul Regis   +2 more
doaj   +1 more source

An Unusual Origin of Fetal Lymphangioma Filling Right Axilla [PDF]

Journal of Clinical and Diagnostic Research, 2016
Fetal lymphangioma is a hamartomatous congenital anomaly of the lymphatic system, which is embracing the fetal skin (sometimes mucous membranes) and the subcutaneous tissue.
Ali Ozgur Ersoy, Efser Oztas, Erdinc Saridogan, Sibel Ozler, Nuri Danisman   +4 more
doaj   +1 more source

Analyzing a clinical case of married couple with combined infertility

Акушерство, гинекология и репродукция, 2022
Infertility is a disease of the reproductive system characterized by lacked clinical pregnancy after 12 or more months of regular unprotected sex. To diagnose the causes and choose the tactics of infertility treatment, a personalized approach to each ...
A. V. Ledina, G. G. Ketova
doaj   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf, Kwan, Johnson, Lu, Chun-Mei, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F., Zitzelsberger, Horst F.   +6 more
core   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Swyer Syndrome in Phenotypic Female with 46,XY Karyotype [PDF]

Journal of Clinical and Diagnostic Research, 2018
Individuals with Swyer syndrome have an XY karyotype and are phenotypically female. The prevalence of Swyer Syndrome is about 1 in 30,000 and it is an extremely rare condition.
D Prashanth Shetty, Meenakshi Arumugam, Jayarama S Kadandale, Suchetha Kumari   +3 more
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Highly specific PCR-RFLP assays for karyotyping the widespread 2Rb inversion in malaria vectors of the Anopheles gambiae complex [PDF]

, 2020
Background: Chromosomal inversion polymorphisms play a role in adaptation to heterogeneous environments. Inversion polymorphisms are implicated in the very high ecological flexibility of the three main malaria vector species of the Afrotropical Anopheles
Besansky, N. J., Calzetta, M., Caputo, B., Della Torre, A., Love, R. R., Montanez-Gonzalez, R., Petrarca, V., Pichler, V., Pombi, M., Schaecher, L., Vallera, A.   +10 more
core   +1 more source